Canonical Allele Identifier: CA3478713

Gene: DIAPH1

Linked Data

• dbSNP Id: rs768960935
• ExAC: 5:140903664 C / T
• gnomAD v2: 5-140903664-C-T
• gnomAD v4: 5-141524097-C-T
• MyVariant Identifiers: chr5:g.140903664C>T (hg19) ; chr5:g.141524097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141524097C>T , CM000667.2:g.141524097C>T	GRCh38
NC_000005.9:g.140903664C>T , CM000667.1:g.140903664C>T	GRCh37
NC_000005.8:g.140883848C>T	NCBI36
NG_011594.1:g.99959G>A
NG_011594.2:g.99959G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.3661+46G>A MANE Select	ENSP00000373706.4:n.3661+46G>A
ENST00000448451.6:c.67+46G>A	ENSP00000408159.2:n.67+46G>A
ENST00000643312.1:c.67+46G>A	ENSP00000495191.1:n.67+46G>A
ENST00000643718.1:n.141+46G>A
ENST00000647433.1:c.3661+46G>A	ENSP00000494675.1:n.3661+46G>A
ENST00000253811.10:c.3529+46G>A	ENSP00000253811.7:n.3529+46G>A
ENST00000389054.7:c.3661+46G>A	ENSP00000373706.4:n.3661+46G>A
ENST00000389057.9:c.3634+46G>A	ENSP00000373709.6:n.3634+46G>A
ENST00000398557.8:c.3661+46G>A	ENSP00000381565.5:n.3661+46G>A
ENST00000448451.5:c.197+46G>A
ENST00000468119.3:n.182+46G>A
ENST00000476339.1:n.613+46G>A
ENST00000518047.5:c.3634+46G>A	ENSP00000428268.2:n.3634+46G>A
NM_001079812.2:c.3634+46G>A	NP_001073280.1:n.3634+46G>A
NM_001314007.1:c.3661+46G>A	NP_001300936.1:n.3661+46G>A
NM_005219.4:c.3661+46G>A	NP_005210.3:n.3661+46G>A
XM_011537572.1:c.3625+46G>A	XP_011535874.1:n.3625+46G>A
XM_011537573.1:c.3595+46G>A	XP_011535875.1:n.3595+46G>A
XM_024454384.1:c.3784+46G>A	XP_024310152.1:n.3784+46G>A
XM_024454385.1:c.3757+46G>A	XP_024310153.1:n.3757+46G>A
XM_024454386.1:c.3748+46G>A	XP_024310154.1:n.3748+46G>A
XM_024454387.1:c.3718+46G>A	XP_024310155.1:n.3718+46G>A
NM_005219.5:c.3661+46G>A MANE Select	NP_005210.3:n.3661+46G>A
NM_001079812.3:c.3634+46G>A	NP_001073280.1:n.3634+46G>A
NM_001314007.2:c.3661+46G>A	NP_001300936.1:n.3661+46G>A